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- W2060823339 abstract "Renal-coloboma syndrome, an autosomal dominant disorder associated with mutations in PAX2, is characterized by colobomatous eye defects, renal hypoplasia, vesicoureteral reflux, high-frequency hearing loss, and rarely central nervous system abnormalities. We identified a three-generation family with optic nerve colobomatous dysplasia and renal disease. We report the identification of a novel mutation in PAX2 in this family with renal-coloboma syndrome, Arg115X. We also report on the ocular and extraocular manifestations of PAX2 mutations for all cases of renal-coloboma syndrome reported to date." @default.
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- W2060823339 date "2003-01-01" @default.
- W2060823339 modified "2023-09-30" @default.
- W2060823339 title "Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndrome" @default.
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- W2060823339 doi "https://doi.org/10.1076/opge.24.4.191.17229" @default.
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